A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly associated (ASPM) gene cause autosomal recessive primary...

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Publicado en:Transl Psychiatry
Autores principales: Garrett, Lillian, Chang, Yoon Jeung, Niedermeier, Kristina M., Heermann, Tamara, Enard, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Angelis, Martin Hrabě de, Huttner, Wieland B., Wurst, Wolfgang, Hölter, Sabine M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7026184/
https://ncbi.nlm.nih.gov/pubmed/32066665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41398-020-0686-0
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